Dysautonomia: Summing things up 05/17/2012

Dysautonomia: Summing things up 05/17/2012

We made it home safely. The return trip was much easier then the trip up there. We met with the doctor for about an hour and had a very interesting conversation. He took an extensive background medical history.

After the history,  he did a through physical exam.  Believe it of not,  the doctor actually found Gavin’s lower reflexes.

What he showed us is that Gavin’s reflexes are actually there,  however they diminish as they get lower.  While I don’t know that I agree with this entirely,  it was clear that they are still present above his knees. When you go below his knees, that’s when they become even more diminished.

Basically, we are going to have to go through all the testing at a later date.  We actually go back in early July for a series of autonomic.

He also gave us an order for a chromosomal micro array. This is extremely detailed genetic testing. It will look for something like 2000 different genetic disorder.  He will have the test itself done at Akron Children’s Hospital in the morning,  prior to his infusion.

The doctor told us that if he for some reason tests negative for Dysautonomia,  and the genetic testing doesn’t reveal anything useful,  this is most likely mitochondrial in nature. We learned that neurologically, while he is diminished,  he’s otherwise normal.  This of course,  is not referring to things on a cognitive level though. He is clearly regressing in that area.

We were also informed that mitochondrial disease can present with Gavin’s symptoms.  A person can experience regression and it can be progressive in nature,  like Gavin’s.

That’s where stand at this moment. We are in for another waiting game 🙁

< em>**Thanks for reading**

       -Lost and Tired

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